| Metadata | |
|---|---|
| ID | DOID:0070217 |
| Name | familial hyperinsulinemic hypoglycemia 6 |
| Definition | A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3. https://www.ncbi.nlm.nih.gov/pubmed/8769351, https://www.ncbi.nlm.nih.gov/pubmed/9571255 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
HHF6 [EXACT] HI/HA syndrome [EXACT] hyperinsulinism-hyperammonemia syndrome [EXACT] |
| Parent Relationships |